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Goal To engage you in the world of genetics and clarify any misconceptions about genetics and the genetic counseling profession through discussion and active learning

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What do you know about Genetic Counseling? Turn to your neighbor and discuss what you know or have heard about genetic counseling: DefinitionWhat they do Where they work Who has known someone who has seen a genetic counselor?

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Objectives Describe the four major roles of a clinical genetic counselor Define non-directive counseling and describe why it’s a genetic counselor’s guiding principle List the four major areas a genetic counselor would practice Explain the reasons for and benefits of genetic services

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Definition “Genetic counseling is the process of helping people understand and adapt to the medical, psychological and familial implications of genetic contributions to disease” – National Society of Genetic Counselors 2006

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Brief History Genetic info used for a long time –Didn’t circumcise brothers of bleeders, societal taboos against marriage of relatives Mid 1900s- purview to Public Health-genetics to better the human race 1947- term Genetic Counseling coined 1969 - Sarah Lawrence started first GC program 1970 - GC Profession is born 1975 - ASHG first defined GC 1979 - NSGC formed 1993 - ABGC was created to certified GCs As of today: –~3000s practicing GCs in US –30 accredited programs in US

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Roles of a Genetic Counselor 1.Interpret family and medical history to assess the chance (risk) of disease occurrence or recurrence 2.Education about inheritance, testing, management, prevention, resources and research 3.Counseling to promote informed choices and adaptation to the risk or condition 4.Serve as advocates to empower patients

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Interpret family and medical history to assess the chance (risk) of disease occurrence or recurrence HOW? Create a Pedigree Look for patterns with in the family Use statistical models Research from the literature Boys are Squares; Girls are Circles Draw your family

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What are some genetic traits, conditions or diseases that can be passed down through families? Color blindness Cleft chin Widow’s peak hair line Rolling your tongue

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What are some genetic traits, conditions or diseases that can be passed down through families? Huntington Disease Some Cancer What about Down Syndrome? Hemophilia Duchenne Muscular Dystrophy Cystic fibrosis

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What is responsible for carrying this information? ALL our cells contain DNA Packaged as Chromosomes Contain Genes

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Chromosomes Contain all of our genetic material, tell our bodies how to grow and develop 23 pairs = 46 chromosomes In each pair one is from Mom and one is from Dad Females are typically XX, males are XY

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Inheritance Autosomal: the gene responsible is located on one of the 22 pairs of autosomes (non-sex determining chromosomes). –Dominant: conditions that are manifest in just one copy of the changed gene. –Recessive: conditions are only manifest in individuals who have two copies of the changed gene. X-linked: the gene that encodes for the trait is located on the X sex chromosome.

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Counseling to promote informed choices Rogers Person Centered Care –Positive view of humans and trust in self for greater inner directedness  Unconditional Positive Regard - see the best in all people  Empathy - strive to stand in the patient’s shoes  Counselor Genuineness - formation of an open relationship where patient’s feel safe and free to explore their thoughts and emotions

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Counseling to promote informed choices Non-directive Counseling – Guiding Principle –Intention of enabling clients to make independent, informed decisions free from coercion –GCs direct the process of the session, but are careful not to direct the outcome –GCs need to be aware of their own bias, and intentions How does this differ from the medical model?

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Areas of Practice Prenatal –Infertility, multiple miscarriage, still birth or early infant death –Pregnant women at high risk for a genetic condition like cystic fibrosis or sickle cell anemia –Advanced Maternal Age (over 35) –Interpretation of prenatal screening tests

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Questions, Comments? QUIZ –Name the 4 roles a clinical genetic counselor –List the 3 primary areas of practice –What do the circles and squares mean in a pedigree –List one benefit of genetic services Evaluate Me: –Please write down: What you liked about my presentation How you think it could be improved